Coffin-Lowry Syndrome Foundation

Support for families affected by Coffin-Lowry Syndrome

Frequently Asked Questions, Cont'd

Q: What developmental milestones are "normal" for CLS?
Note: The following information is anecdotal, based on data gathered from letters written by family members of individuals affected by Coffin-Lowry syndrome.

A: Walking: Usually somewhere around 2-3 years. Many children have a more or less normal gait with mild coordination and balance issues. In some cases, walking may appear normal if unsteady for the first few years, and then somewhere between ages 4-7, the child's gait may slowly change to a more wide-stanced gait, knees somewhat bent. Sometimes the left leg will drag behind the right. Often this so-called "ataxic" gait is associated with drop episodes, and the two characteristics will emerge about the same time. Both are most likely neurological in origin.

Speech: Speech is always impaired to some degree. Some acquire substantial oral communication, whereas a minority, especially in those with hearing impairment, never speak.  A few basic sounds emerge between birth and 4 years, then between 4-6 years, 2-3 word short sentences usually emerge. Speech will continue to evolve and grow slowly over many years. Most  can generally be understood even by strangers. Despite the limited verbal abilities, the communications skills are good.  They usually understand (receptive language) much better than they can speak (expressive language) so their understanding is often underestimated.

Toilet Training: Most children with intellectual disabilities can be toilet trained by age 7, including Coffin-Lowry children. Watch for the normal signs of readiness: awareness that they have soiled, and a desire to be changed. As with all other things, toilet training will take longer with CLS children. Children need to be able to follow at least 5 actions in sequence to be toilet trained, so they may need assistance for some years. Some are never toilet trained. Watch for constipation, which is very common due to low muscle tone and inactivity and can lead to painful and dangerous bowel blockages.

Self-Care:  Many will eventually learn to handle their own personal hygiene and dress themselves, but some may always have trouble with fasteners such as buttons or tying the laces of their shoes. Pull-on pants, pull-over tops, and shoes with Velcro closures are wonderful for this and help give them a sense of independence and accomplishment.

Reading/Writing/Math: This varies a great deal by individual; writing is dependant on their fine motor control. Many will learn a few simple words - their name, the names of their family members, etc. Some do not learn to read or write at all. They tend to have very good memories.

Social/Emotional: Developmentally, this is the area least affected. Most Coffin-Lowry individuals are capable of a full range of emotions, and tend to be very friendly, cheerful and loving.  A minority exhibit behavior issues.